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Article

Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.

Annals of neurology - 1 Dec 2007

Sarzi Emmanuelle, Goffart Steffi, Serre Valérie, Chrétien Dominique, Slama Abdelhamid, Munnich Arnold, Spelbrink Johannes N, Rötig Agnès

Abstract excerpt

OBJECTIVE: Mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically and genetically heterogeneous group of autosomal recessive diseases characterized by a reduction in mtDNA copy number. Several nuclear genes have been shown to account for these severe oxidative phosphorylation disorders, but the disease-causing mutations remain largely unknown. METHODS: By virtue of homozygosity mapping, we tested...

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PMID: 17722119
DOI: 10.1002/ana.21207

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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